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MYH7 Gene

protein-coding GIFtS: 68

GC14M022951

myosin, heavy chain 7, cardiac muscle, beta
(Previous names: myopathy, distal 1, myosin, heavy polypeptide 7, cardiac muscle, beta )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbols: CMH1, MPD1)

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
About This Section

Aliases
CMD1S ^¹, ², ⁵
CMH1 ^², ⁵
DKFZp451F047 ^²
MGC138376 ^²
MGC138378 ^²
MPD1 ^², ⁵
MYHCB ^², ³
MyHC-beta ^³
MyHC-slow ^³
OTTHUMP00000027949 ^²
SPMD ^², ⁵
SPMM ^², ⁵
myhc-slow ^²

Descriptions
Myosin heavy chain 7 ^³
Myosin heavy chain slow isoform ^³
Myosin heavy chain, cardiac muscle beta isoform ^³
beta-myosin heavy chain ^²
myopathy, distal 1 ^¹, ²
myosin heavy chain (AA 1-96) ^²
myosin, heavy chain 7, cardiac muscle, beta ^²
myosin, heavy polypeptide 7, cardiac muscle, beta ^¹, ²
rhabdomyosarcoma antigen MU-RMS-40.7A ^²

External Ids
HGNC: 7577¹
Entrez Gene: 4625²
UniProtKB: P12883³
Ensembl: ENSG00000092054⁷

Search outside databases for aliases for MYH7 gene

Previous GC identifers: GC14M021254 GC14M017669 GC14M021872

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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EntrezGene summary for MYH7:

Muscle myosin is a hexameric protein containing 2 heavy chain subunits, 2 alkali light chain

subunits, and 2 regulatory light chain subunits. This gene encodes the beta (or slow) heavy chain

subunit of cardiac myosin. It is expressed predominantly in normal human ventricle. It is also

expressed in skeletal muscle tissues rich in slow-twitch type I muscle fibers. Changes in the

relative abundance of this protein and the alpha (or fast) heavy subunit of cardiac myosin

correlate with the contractile velocity of cardiac muscle. Its expression is also altered during

thyroid hormone depletion and hemodynamic overloading. Mutations in this gene are associated with

familial hypertrophic cardiomyopathy, myosin storage myopathy, dilated cardiomyopathy, and Laing

early-onset distal myopathy. [provided by RefSeq]

UniProtKB/Swiss-Prot: MYH7_HUMAN, P12883

Function: Muscle contraction

Gene Wiki entry for MYH7

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
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Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the MYH7 gene

Entrez Gene cytogenetic band: 14q12 Ensembl cytogenetic band: 14q11.2 HGNC cytogenetic band: 14q11.2-q13

MYH7 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 14 GeneLoc Exon Structure

GeneLoc location for GC14M022951: (about GC identifiers)

Start:	22,946,378 bp from pter
End:	22,974,710 bp from pter
Size:	28,333 bases
Orientation:	minus strand

RefSeq DNA sequence:

NC_000014.7 NT_026437.11

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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UniProtKB/Swiss-Prot: MYH7_HUMAN, P12883 (See protein sequence)

Recommended Name: Myosin-7

Size: 1935 amino acids; 223097 Da

Subunit: Muscle myosin is a hexameric protein that consists of 2 heavy chain subunits (MHC), 2

alkali light chain subunits (MLC) and 2 regulatory light chain subunits (MLC-2)

Subcellular location: Cytoplasm, myofibril. Note=Thick filaments of the myofibrils

Miscellaneous: Each myosin heavy chain can be split into 1 light meromyosin (LMM) and 1 heavy

meromyosin (HMM). It can later be split further into 2 globular subfragments (S1) and 1 rod-shaped

subfragment (S2)

Miscellaneous: The cardiac alpha isoform is a 'fast' ATPase myosin, while the beta isoform is a

'slow' ATPase

PDB structures from and Proteopedia :

1IK2 (3D)

2FXM (3D)

2FXO (3D)

3DTP (3D)

Secondary accessions: Q14836 Q14837 Q14904 Q16579 Q2M1Y6 Q92679 Q9H1D5 Q9UMM8

Post-translational modifications:

View phosphorylation sites using PhosphoSite²

REFSEQ proteins: NP_000248.2

ENSEMBL proteins:

ENSP00000355048 ENSP00000347507 ENSP00000380367

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Browse Purified and Recombinant Proteins at Millipore
	Sigma-Aldrich AQUA Peptides for MYH7
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Recombinant Proteins from Abcam (heavy chain cardiac Myosin, beta-cardiac myosin heavy chain)
	Human Recombinant Proteins from Abnova (MYH7)

Browse Origene for full length recombinant human proteins expressed in human HEK293 cells

5/6 Gene Ontology (GO) cellular component terms (links to tree view) (see all 6 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IDA	18029348
GO:0005730	nucleolus	IDA	18029348
GO:0005737	cytoplasm	IEA	--
GO:0005863	striated muscle thick filament	IEA	--
GO:0005925	focal adhesion	IDA	18029348

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Antibodies for MYH7:

	Browse Antibodies Central at Invitrogen
	Millipore Mono- and Polyclonal Antibodies for the study of MYH7
	Sigma-Aldrich Antibodies for MYH7
	Browse R&D Systems for Antibodies
	Antibodies from Abcam (heavy chain cardiac Myosin, beta-cardiac myosin heavy chain), each with their Abpromise^SM
	Monoclonal and Polyclonal Antibodies from Abnova (MYH7)
	Novus Biologicals Antibody for MYH7

Assays for MYH7:

	Browse Invitrogen for biochemical assays
	Browse Kits and Assays available from Millipore
	Browse R&D Systems for biochemical assays
	Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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Graphical View of Domain Structure for InterPro Entry P12883

ProtoNet protein and cluster: P12883

3 Blocks protein families:

IPB000048 IQ calmodulin-binding region

IPB002928 Myosin tail

IPB004009 Myosin N-terminal SH3-like domain

UniProtKB/Swiss-Prot: MYH7_HUMAN, P12883

Domain: The rodlike tail sequence is highly repetitive, showing cycles of a 28-residue repeat

pattern composed of 4 heptapeptides, characteristic for alpha-helical coiled coils

Similarity: Contains 1 IQ domain

Similarity: Contains 1 myosin head-like domain

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (MYH7)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (MYH7)

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000257

Applied Biosystems Silencer® siRNAs for MYH7

Sigma-Aldrich siRNA for MYH7

Sigma-Aldrich shRNA for MYH7

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Browse Clone Ranger at Invitrogen for clones
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clone in CMV expression vector: NM_000257
Myc/DDK tagged cDNA clone in CMV expression vector: NM_000257
untagged cDNA clone in CMV expression vector: NM_000257

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_000257

UniProtKB/Swiss-Prot: MYH7_HUMAN, P12883

Function: Muscle contraction

Genatlas biochemistry entry for MYH7:

myosin,motor contractile protein moving towards the "plus" end of actin track,heavy polypeptide

7,cardiac muscle,beta

1 MGI mutant phenotype (inferred from 1 allele) (MGI details for Myh7):

no phenotypic analysis

5/8 Gene Ontology (GO) molecular function terms (links to tree view) (see all 8 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000146	microfilament motor activity	NAS	3021460
GO:0000166	nucleotide binding	IEA	--
GO:0003779	actin binding	IEA	--
GO:0005516	calmodulin binding	IEA	--
GO:0005524	ATP binding	IC	16088376

About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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5/7 Sigma-Aldrich "Your Favorite Gene" Pathways for MYH7 (Your Favorite Gene powered by Ingenuity) (see all 7 )

Purine Metabolism
Cardiomyocyte Differentiation via BMP Receptors
Calcium Signaling
Hepatic Fibrosis / Hepatic Stellate Cell Activation
Tight Junction Signaling

GeneDecks MYH7 for the pathways selected above

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Gene Network Central^TM Interacting Genes and Proteins Network for MYH7

5/8 Interacting proteins for MYH7 (ENSP00000355048³ P12883¹) via UniProtKB, MINT, and/or STRING (see all 8 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
DISC1	Q9NRI5¹	EBI-519141, EBI-529989
NTHL1	P78549¹	EBI-519141, EBI-1049350
MYL7	ENSP00000223364³	STRING (score=.905)
MYH10	ENSP00000269243³	STRING (score=.902)
FILIP1L	ENSP00000346560³	STRING (score=.899)

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5/6 Gene Ontology (GO) biological process terms (links to tree view) (see all 6 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0002027	regulation of heart rate	IDA	15621050
GO:0006200	ATP catabolic process	IDA	15621050
GO:0006941	striated muscle contraction	IEA	--
GO:0007512	adult heart development	IMP	15856146
GO:0030049	muscle filament sliding	IMP	8514894 16088376

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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences

Browse Small Molecules at Sigma-Aldrich

Compounds for MYH7 available from Tocris Bioscience

Compound	Action	CAS number
(�)-Blebbistatin	Selective inhibitor of myosin II	[674289-55-5]

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10/13 Novoseek chemical compound relationships for MYH7 gene (see all 13 )

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
mcat	59.44	3	11306707 (1), 12388056 (1), 17962623 (1)
actomyosin	52.10	1	15498825 (1)
gp 130	25.00	1	12829178 (1)
ryanodine	20.75	2	17556658 (1), 12213966 (1)
leucine	20.27	3	12847114 (2), 8435239 (1)
atp	9.96	4	9105042 (1), 9326994 (1), 12767664 (1), 18506004 (1)
asparagine	8.60	1	7815466 (1)
lipid	4.69	1	15522914 (1)
calcium	3.27	11	9040040 (1), 11986409 (1), 12554693 (1), 18191736 (1) (see all 9)
polyacrylamide	0.00	1	11218759 (1)

About this table

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (MYH7)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (MYH7)

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000257

Sigma-Aldrich siRNA for MYH7

Sigma-Aldrich shRNA for MYH7

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_000257

REFSEQ mRNAs for MYH7 gene:

NM_000257.2

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_000257

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_000257
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_000257
                                 untagged cDNA clone in CMV expression vector: NM_000257

Additional cDNA sequence:

AB209708.1 AK307590.1 AY518538.1 BC112171.1 BC112173.1 BC150520.1 DQ248310.1 EF560725.1

EU747717.1 M17712.1 M21665.1 M27729.1 M58018.1 X03741.1 X05631.1 X06976.1

X51591.1

12 DOTS entries:

DT.450919 DT.100791347 DT.120770481 DT.87014877 DT.100791340 DT.101956188 DT.40291566 DT.102837376

DT.120770500 DT.40105982 DT.40133624 DT.95255612

24/640 AceView cDNA sequences (see all 640 ):

F34349 CF552688 F28120 CF552875 F29242 F15893 F24972 CF552021

AA248307 F29528 F29894 F31563 CF552670 F29826 F30794 F29395

CF552042 F26451 AJ710169 CF553018 AA196041 F27623 CF552401 CF551830

highest scoring ESTs for MYH7:

BF834726 CD607903 M58018 AA092572 AA099637 AA178860 AA178996 AA179123 AA180823 AA192170

Unigene Cluster for MYH7:

Myosin, heavy chain 7, cardiac muscle, beta

Hs.678918 [show with all ESTs]

Unigene Representative Sequence: NM_000257

GeneLoc Exon Structure

3 Ensembl transcripts including schematic representations:

ENST00000361594 ENST00000355349 ENST00000397183

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
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MYH7 expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for MYH7

¹ / ² / ³

5 probe-sets matching MYH7 gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
39095_at²^{, 3}	U95-A	2	1.00	0.97	1.00	1.00	M58018	0.80	0.88	0.84	1
204737_s_at²^{, 3}	U133-A	2	1.00	0.50	--	--	NM_000257	0.60	0.83	0.73	1
216265_x_at²^{, 3}	U133-A	2	0.64	0.64	--	--	AI292276	0.40	0.75	0.60	1
204737_s_at²	U133Plus2	2	1.00	0.50	--	--	--	--	--	--	--
216265_x_at²	U133Plus2	2	0.64	0.64	--	--	--	--	--	--	--

GeneDecks MYH7 for binary patterns associated with the probe-sets selected above

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Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: CTGGAGCCTG

SOURCE GeneReport for Unigene cluster: Hs.678918
Expression variation in blood from EXPOLDB for MYH7

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for MYH7 gene from 5/10 species (see all 10 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
chimpanzee (Pan troglodytes)	MYH7¹	--	myosin, heavy chain 7, cardiac muscle, beta	97.78(n) 97.76(a)	745215 XM_001150786.1 XP_001150786.1
cow (Bos taurus)	MYH7¹	--	myosin, heavy chain 7, cardiac muscle, beta	93.06(n) 97.57(a)	282714 NM_174727.1 NP_777152.1
rat (Rattus norvegicus)	Myh7¹	--	myosin, heavy chain 7, cardiac muscle, beta	91.66(n) 97.21(a)	29557 NM_017240.1 NP_058936.1
mouse (Mus musculus)	Myh7^{1, 5}	14 (20.00 cM)⁵	myosin, heavy polypeptide 7, cardiac muscle, beta^{1, 5}	91.97(n)¹ 97.52(a)¹	140781¹ NM_080728.2¹ NP_542766.1¹ AJ223362⁵ AK040973⁵ (see all 19)
chicken (Gallus gallus)	MYH7¹	--	myosin, heavy chain 7, cardiac muscle, beta	82.21(n) 88.68(a)	395350 NM_001001302.1 NP_001001302.1

About this table Species with no ortholog for MYH7

ENSEMBL Gene Tree for MYH7

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
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Paralogs for MYH7 gene

MYH3² MYH6²

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

10/371 NCBI SNPs in MYH7 are shown (see all 371 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 176)

AB	SNP ID	Valid	Chr 14 pos	Sequence	Recs	AA Chg	Type	More	Recs	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--			--
	rs1317972^1,2	A,C,F,H,O	22976706(+)	`CCAGCC/GTCCTT`	1	--	ng3¹		11	EU EA WA NA	962
	rs17794387^1,2	C,F,H	22951790(+)	`GATCTC/TGGCTT`	1	--	ut3¹ ese³		19	NA EU EA WA NS	1844
	rs2754172^1,2	C,F,H	22976040(+)	`TTCCCA/GAGCAC`	1	--	ng3¹		4	EU EA WA	420
	rs3729823^1,2	C,F,H	22956249(-)	`GGAGTC/GCCTGG`	1	S/C	mis¹ ese³		16	EU EA WA NS	1708
	rs12147570^1,2	C,F,H	22951760(+)	`TCAGGG/TCAGTG`	1	--	ng5¹		19	EU EA WA NA NS	1850
	rs2754171^1,2	C,F	22974828(+)	`CCCCCC/GAGGCT`	1	--	ng3¹		4	NS	478
	rs7142503^1,2	C,H	22951749(+)	`TCCCCG/AGGTCC`	1	--	ng5¹		10	EU EA NS	1040
	rs2754166^1,2	C,H	22972157(+)	`TAGCGA/CTCCTT`	1	D/E	mis¹ ese³		4	EU EA WA	404
--	rs17092354^1,2	F,H	22975591(+)	`GGGACC/TCCCTA`	1	--	ng3¹		7	NA EU EA WA	556
--	rs4981473^1,2	H	22968015(+)	`GATCTC/GGAAGC`	1	E/Q	mis¹ ese³		4	EU EA WA	414

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HapMap Linkage Disequilibrium images for MYH7 (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
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OMIM: 160760

UniProtKB/Swiss-Prot: MYH7_HUMAN, P12883

Defects in MYH7 are the cause of cardiomyopathy familial hypertrophic type 1 (CMH1)

[MIM:192600]. Familial hypertrophic cardiomyopathy is a hereditary heart disorder characterized by

ventricular hypertrophy, which is usually asymmetric and often involves the interventricular

septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be

readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from

benign to malignant forms with high risk of cardiac failure and sudden cardiac death

Defects in MYH7 are the cause of myosin storage myopathy [MIM:608358]. In this disorder,

muscle biopsy shows type 1 fiber predominance and increased interstitial fat and connective

tissue. Inclusion bodies consisting of the beta cardiac myosin heavy chain are present in the

majority of type 1 fibers, but not in type 2 fibers

Defects in MYH7 are the cause of scapuloperoneal myopathy MYH7-related (SPMM)

[MIM:181430]; also called scapuloperoneal syndrome myopathic type. Scapuloperoneal myopathy was

initially described as "une forme hereditaire d'atrophie musculaire progressive" beginning in the

lower legs and affecting the shoulder region earlier and more severely than distal arm

Defects in MYH7 are a cause of cardiomyopathy dilated type 1S (CMD1S) [MIM:160760].

Dilated cardiomyopathy is a disorder characterized by ventricular dilation and impaired systolic

function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature

death

Defects in MYH7 are the cause of Laing early-onset distal myopathy (MPD1) [MIM:160500].

MPD1 is an autosomal dominant disorder which differs from other distal myopathies in that onset is

as early as 4 years of age. Selective weakness of the anterior tibial muscles is followed by

weakness of the finger extensors and selected proximal muscle groups such as the hip abductors and

rotators, the shoulder abductors and the sternocleidomastoids

10/31 Novoseek disease relationships for MYH7 gene (see all 31 )

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
hypertrophy	76.48	18	10329202 (2), 10212267 (1), 12520092 (1), 17517351 (1) (see all 15)
cardiac hypertrophy	75.14	8	7796500 (1), 19168726 (1), 18693253 (1), 8331789 (1) (see all 7)
dilated cardiomyopathy	73.23	10	17947214 (2), 18953637 (2), 17434305 (1), 1533350 (1) (see all 8)
death sudden cardiac	71.85	6	10957787 (1), 16335287 (1), 12881443 (1), 8180512 (1) (see all 6)
distal myopathies	71.72	7	15322983 (3), 17383184 (2), 17434305 (1), 16103042 (1)
death sudden	71.15	9	18383048 (2), 11377367 (1), 16630449 (1), 14563299 (1) (see all 7)
cardiomyopathy	69.27	12	17947214 (2), 11515275 (1), 17372140 (1), 15998695 (1) (see all 11)
ventricular hypertrophy	63.98	3	16504640 (1), 8261235 (1)
myopathy	58.98	25	17336526 (3), 15699387 (2), 15605950 (2), 16684601 (1) (see all 15)
myopathy, congenital	58.98	2	15605950 (1), 19336582 (1)

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GeneTests: MYH7

Familial Hypertrophic Cardiomyopathy

Human Gene Mutation Database: MYH7
Genetic Association Database: MYH7
Human Genome Epidemiology Navigator: MYH7 (25 documents)

(Possibly Related Articles in Doctor's Guide)
About This Section

(in PubMed. Associations of this gene to articles via ¹Novoseek, ²HGNC, ³Entrez Gene, ⁴UniProtKB/Swiss-Prot, ⁵UniProtKB/TrEMBL, ⁶GAD, and/or ⁷PharmGKB)
About This Section

10/325 PubMed articles for MYH7 gene (see all 325 ):

Mutation screening in dilated cardiomyopathy: prominent role of the beta myosin heavy chain gene. (PubMed id 15769782)^{1, 3, 4, 6} Villard E.... Komajda M. (2005)
Mutations profile in Chinese patients with hypertrophic cardiomyopathy. (PubMed id 15563892)^{1, 3, 4, 6} Song L.... Hui R. (2005)
Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1). (PubMed id 15322983)^{1, 2, 3, 4} Meredith C....Laing N.G. (2004)
Prevalence of cardiac beta-myosin heavy chain gene mutations in patients with hypertrophic cardiomyopathy. (PubMed id 15856146)^{1, 3, 4, 6} Perrot A....Osterziel K.J. (2005)
Denaturing high performance liquid chromatography: high throughput mutation screening in familial hypertrophic cardiomyopathy and SNP genotyping in motor neurone disease. (PubMed id 15858117)^{1, 3, 4, 6} Yu B.... Trent R.J. (2005)
A novel missense mutation, Leu390Val, in the cardiac beta-myosin heavy chain associated with pronounced septal hypertrophy in two families with hypertrophic cardiomyopathy. (PubMed id 11214007)^{1, 3, 4, 6} Havndrup O.... Christiansen M. (2000)
Missense mutations in the beta-myosin heavy-chain gene cause central core disease in hypertrophic cardiomyopathy. (PubMed id 8483915)^{1, 2, 3, 4} Fananapazir L....Epstein N.D. (1993)
Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling. (PubMed id 16199542)^{3, 4, 6} Ingles J.... Semsarian C. (2005)
Utility of genetic screening in hypertrophic cardiomyopathy: prevalence and significance of novel and double (homozygous and heterozygous) beta-myosin mutations. (PubMed id 12820698)^{3, 4, 6} Mohiddin S.A....Fananapazir L. (2003)
Assessment of diastolic function with Doppler tissue imaging to predict genotype in preclinical hypertrophic cardiomyopathy. (PubMed id 12081993)^{3, 4, 6} Ho C.Y....Solomon S.D. (2002)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
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Entrez Gene: 4625	HGNC: 7577	AceView: MYH7andMYH6	Ensembl:ENSG00000092054	euGenes: HUgn4625
ECgene: MYH7	H-InvDB: MYH7

(According to HUGE)
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(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
Familial hypertrophic cardiomyopathy mutation database	http://www.angis.org.au/Databases/Heart/heartbreak.html
GeneReviews	http://www.genetests.org/query?gene=MYH7

Licensable Technologies for MYH7
(Available from WIS Yeda, Salk, Tufts)

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(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
About This Section

Products for MYH7:

TaqMan ® Gene Expression Assays

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Free SNP selection tool

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Invitrogen Human Recombinant Kinases	Invitrogen Custom Antibody and Peptide Service
Invitrogen Proteins / Assays / Screening Services	Search Invitrogen catalog for MYH7-related products

	Millipore Custom Antibody & Bulk Services
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	Recombinant Proteins (heavy chain cardiac Myosin, beta-cardiac myosin heavy chain)
	Antibodies (heavy chain cardiac Myosin, beta-cardiac myosin heavy chain)

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Tocris compounds for MYH7

Search www.enzolifesicences.com for proteins, assays, substrates, inhibitors & antibodies

Antibodies for MYH7

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Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

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MYH7 Gene at Home site.
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MYH7 Gene

protein-coding GIFtS: 68

Aliases &
Descriptions
for MYH7

Summaries
for MYH7

Genomic Location
for MYH7

Proteins
for MYH7

Protein Domains/
Families
for MYH7

Gene Function
for MYH7

Pathways & Interactions
for MYH7

Drugs & Compounds
for MYH7

Transcripts
for MYH7

Expression
for MYH7

Orthologs
for MYH7

Paralogs
for MYH7

SNPs/Variants
for MYH7

Disorders & Mutations
for MYH7

Medical News
for MYH7

Publications
for MYH7

Search for MYH7

Genome Databases showing MYH7

Other Databases showing MYH7

Specialized Databases showing MYH7

Licensable Technologies
for MYH7

Services
for MYH7

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

MYH7 (Gene Symbol)
CMD1S
CMH1
DKFZp451F047
MGC138376
MGC138378
MPD1
MYHCB
MyHC-beta
MyHC-slow
OTTHUMP00000027949
SPMD
SPMM
myhc-slow
Myosin heavy chain 7
Myosin heavy chain slow isoform
Myosin heavy chain, cardiac muscle beta isoform
beta-myosin heavy chain
myopathy, distal 1
myosin heavy chain (AA 1-96)
myosin, heavy chain 7, cardiac muscle, beta
myosin, heavy polypeptide 7, cardiac muscle, beta
rhabdomyosarcoma antigen MU-RMS-40.7A

MYH7 Gene

protein-coding GIFtS: 68

Aliases & Descriptionsfor MYH7

Summariesfor MYH7

Genomic Locationfor MYH7

Proteinsfor MYH7

Protein Domains/Familiesfor MYH7

Gene Functionfor MYH7

Pathways & Interactionsfor MYH7

Drugs & Compoundsfor MYH7

Transcriptsfor MYH7

Expression for MYH7

Orthologsfor MYH7

Paralogsfor MYH7

SNPs/Variantsfor MYH7

Disorders & Mutationsfor MYH7

Medical Newsfor MYH7

Publicationsfor MYH7

Search for MYH7

Genome Databases showing MYH7

Other Databases showing MYH7

Specialized Databases showing MYH7

Licensable Technologiesfor MYH7

Servicesfor MYH7

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for MYH7

Summaries
for MYH7

Genomic Location
for MYH7

Proteins
for MYH7

Protein Domains/
Families
for MYH7

Gene Function
for MYH7

Pathways & Interactions
for MYH7

Drugs & Compounds
for MYH7

Transcripts
for MYH7

Expression
for MYH7

Orthologs
for MYH7

Paralogs
for MYH7

SNPs/Variants
for MYH7

Disorders & Mutations
for MYH7

Medical News
for MYH7

Publications
for MYH7

Licensable Technologies
for MYH7

Services
for MYH7